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The term intersex used in the past has been replaced by "Disorders of Sex Differentiation". In this condition the development of chromosomal, gonadal or anatomical sex is atypical. This problem creates anxiety to the parents and a challenge for attending doctor. The problems faced by the individual are sexual, reproductive, sex of raring, placement in the society and psychological impact. The optimal management of the patient should be individualized by multidisciplinary team. Three cases of Disorders of Sex Differentiation (DSD) are presented with different causes and presentations. Two cases carrying XY karyotype pattern, while one case was of XX. The diagnosis of swyers syndrome, 5 alpha reductase deficiency and congenital adrenal hyperplasia was made on the basis of genital tract development, hormonal analysis and karyotyping. The strange feature which was common in all these cases was the wish of patients as well as family members to adopt sex of raring as male.

The objective of this study was to collect data of patients coming to us with primary amenorrhea. Finding the different causes of this problem and managing them accordingly with the help multidisciplinary team..In this descriptive case series, patients with primary amenorrhea coming to the Gynae A Unit, Lady Reading Hospital, Peshawar from December 2012 till September 2016 were included. Data was collected on predesigned proforma. Investigations were advised according to the protocol made by our unit. Data was analysed using SPSS version 16.Total number of primary amenorrhea cases were 82. Forty-nine (59.8%) were unmarried and 33 (40.4%) were married. The mean age of the sample was 16±5.3 years. In 20 (24%) cases, there was gonadal dysgenesis. Mayer Rokistansky Kuster Hauser syndrome was found in 18 (21.9%) of cases. Constitutional and Turner syndrome in 11 (13.4%), respectively. Imperforate hymen in 7 (8.5%), vaginal septum in 5 (6.1%), swyer syndrome 2 (2.4%). Endometrial receptor deficiency in 4 (4.8%) cases. There were two cases of hypogonadotrophic hypogonadism. One case of hypothyroidism and one case of congenital adrenal hyperplasia (CAH).Gonadal dysgenesis was the most common cause as compared to Mullerian duct abnormalities. Patients with endometrial receptor deficiency were more challenging. Primary amenorrhea is a distressing problem for patients as well for parents. These people are misdiagnosed and mismanaged at various occasions..